Associated Papers
Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
Wu YT et al.
Hearing Research, 2023
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
36362242 (PubMed )
Supplement: ijms-23-13453-s001.zip › Table_S1.pdf
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 2017
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
Yuan Y et al.
Plos One, 2012
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y et al.
Journal of Translational Medicine, 2009
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
Dai P et al.
Journal of Translational Medicine, 2008
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